X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Engelsk navn: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Definisjon
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features – prominent ears, prognathism, thin upper lip, dental crowding.
Fra Orphanet
ORPHA: 435938
Klassifiseringsnivå: Disorder
ICD-10: Q87.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
